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Hypophosphatemic Rickets.

Journal of the Korean Pediatric Society 1990;33(4):437-447.
Published online April 30, 1990.
Hypophosphatemic Rickets.
Kyung Mo Kim, Seong Hoon Ha, Dong Kyu Jin, Kwang Wook Ko
Department of Pediatrics, Seoul National University, Seoul, Korea
저인산혈성 구루병의 임상적 고찰
김경모, 하성훈, 진동규, 고광욱
서울대학교 의과대학 소아과학교실
Received: 29 September 1989   • Accepted: 29 September 1989
Seventeen patients who were diagnosed as primary hypophosphatemic rickets at Department of Pediatrics, Seoul National University Children’s Hospital were analyzed to assess its clinical aspect and effect of treatment, especially on height and growth velosity. The average age of onset was 2 years, and their chief complaints were bowleg and short stature. Sex ratio was l.l:l(male: female). Familial hypophoshatemic rickets was known as X-linked domi- nant inheritance, however, majority of patients (7.4〜5.2%) in this study were sporadic cases. Their height was near or below 3rd percentile. With treatment their growth pattern was found to be pararrel to normal growth curve, and catch up growth (height gain) was not observed in majority, but early treatmnet in earlier age facilitated growth velosity and height and catch up was observed in a few patients. On an appropriate therapy with Vitamin D (8427 IU/kg) for 11 months, though phosphate level was not changed, serum alkaline phosphatase was notably decreased below 300IU/L of therapeutic level. We observed two patient whose serum alkaline phosphatase rebounded back during growth spurt at puberty when additional further increment of vitamin D was required. In all patients on appropriate treatment, x-ray findings of rickets revealed marked improvement.
Key Words: Longitudinal growth, Vitamin D effect of treatment, Hypophosphatemic rickets

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